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  • Human CYP7B1 wild-type allele is located in the vicinity of 8q21.3 and is approximately 211 kb in length. This allele, which encodes 25-hydroxycholesterol 7-alpha-hydroxylase enzyme, is involved in cholesterol catabolism. Mutation of the gene is associated with autosomal recessive spastic paraplegia 5A and congenital bile acid synthesis defect 3.
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